The Survey of the Frequency of Single and Triplicated α-Globin Gene Loci and Their Imbalance in Japanese

A survey of an interchromosomally unequal but homologous crossover in human α-globin gene cluster was performed with the DNA of the healthy Japanese adults. Of 200 haplotypes, 4 were found to be unusual α-globin gene clusters ; two were the triplicated[-α2-α2-α1-] generated by leftward crossover and the other two were the single [-α2α1(orα1)] created by rightward crossover. However, these identified haplotypes of single and triplicated a gene were not correspond in each to a reciprocal counterpart, produced by the same crossing over mechanism. Individuals with these unusual α-globin gene haplotypes showed neither clinical nor hematologic abnormalities

Structural Analysis of Human Hemoglobin Variants by Molecular Secondary Ion Mass Spectrometry

Chemically purified abnormal peptides, α62-76 of Hb Ube-2, βT-3 of Hb G-Coushatta, αT-7 of Hb J-Norfolk and βT-1 of Hb Himeji, were subjected to molecular secondary ion mass spectrometry (SIMS). These peptides were identified by the mass number of their protonated molecular ion (M+H)+ and their amino acid sequence was confirmed by a series of the mass number of fragmented ions released by a stepwise removal from their C-terminus. Amino acid substitution of α68 Asn→Asp in Hb Ube-2, β22 Gln→ Ala in Hb G-Coushatta and α51 Gly→Asp in Hb J-Norfolk was successfully determined and a questionable Hb variant, tentatively called Hb Himeji (β140 Ala→ Asp) was proven to have a significant amount of the additive of the glycated N-terminus of the βT-1 peptide

The Survey of Abnormal Hemoglobins in the Kobe District: I. Hb Ube-2 (α68 Asn→Asp) and Hb Syracuse (β143 His→Pro) with High Oxygen Affinity

In a hemoglobin survey conducted in Kobe for the past three years, ten instances of abnormal hemoglobin were discovered. This paper describes two instances of Hb Ube-2 (α68 Asn→Asp) and one instance of Hb Syracuse (β143 His→Pro) with high oxygen affinity detected in this survey